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Hereditary diffuse gastric cancer is an autosomal dominant disorder that is associated with a variety of different mutations in the epithelial cadherin (CDH1) gene. Affected families have high rates of this cancer (occurring as early as the second decade of life) and an increased risk for lobular breast cancer. Penetrance of CDH1 appears to be greater in women than in men. To determine whether recurring germline CDH1 mutations result from a common ancestry or from unique independent mutations, investigators studied 38 families who met the diagnostic criteria for hereditary diffuse gastric cancer.
Genetic sequencing identified 13 mutations (6 of which were novel) in 15 families, for a detection rate of 40%. Haplotype testing results were avai…